FES, FES proto-oncogene, tyrosine kinase, 2242

N. diseases: 101; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome
0.030 Biomarker disease BEFREE Linkage disequilibrium between BLM and FES was detected in Ashkenazi Jews with BS, confirming the linkage results and supporting the hypothesis that the increased frequency of the BS mutation in the Ashkenazim is due to founder effect. 8875252 1996
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome
0.030 GeneticVariation disease BEFREE Therefore, BLM, the gene that when mutated gives rise to Bloom syndrome, is tightly linked to FES, a gene whose chromosome position is known to be 15q26.1. 8022833 1994
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome
0.030 GeneticVariation disease BEFREE A striking association of the C3 allele at FES with blm (delta = .422; p = 5.52 x 10(-7)) and of the 145-bp and 147-bp alleles at D15S127 with blm (delta = .392 and delta = .483, respectively; p = 2.8 x 10(-5) and p = 5.4 x 10(-7), respectively) was detected in Ashkenazi Jews with BS. 8079989 1994